BRCA1 c.5074+3A>C

Variant ID: 17-41219622-T-G

NM_007294.3(BRCA1):c.5074+3A>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of a Splice Variant (c.5074+3A>C) of BRCA1 by RNA Sequencing and TOPO Cloning.

Genes
Hong, Jinyoung J; Kim, Ji Hyun JH; Ahn, Se Hee SH; Gu, Hyunjung H; Chang, Suhwan S; Lee, Woochang W; Kim, Dae-Yeon DY; Chun, Sail S; Min, Won-Ki WK
Publication Date: 2021-05-26

Variant appearance in text: BRCA1: 5074+3A>C
PubMed Link: 34073420
Variant Present in the following documents:
  • Main text
  • genes-12-00810.pdf
View BVdb publication page



Accurate classification of BRCA1 variants with saturation genome editing.

Nature
Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
Publication Date: 2018-10

Variant appearance in text: BRCA1: 5074+3A>C
PubMed Link: 30209399
Variant Present in the following documents:
  • NIHMS1501643-supplement-2.xlsx, sheet 1
View BVdb publication page



A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Bmc Cancer
Hondow, Heather L HL; Fox, Stephen B SB; Mitchell, Gillian G; Scott, Rodney J RJ; Beshay, Victoria V; Wong, Stephen Q SQ; , ; Dobrovic, Alexander A
Publication Date: 2011-06-24

Variant appearance in text: BRCA1: 5074+3A>C
PubMed Link: 21702907
Variant Present in the following documents:
  • Main text
View BVdb publication page